A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664899



Internal ID9584318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:73530257..73557985hg38UCSC Ensembl
chr14:73996961..74024689hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3827729
hg1927729
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv401e199
Supporting Variantsessv5523398, essv5886887, essv5642049, essv6508939, essv5733769, essv6151298, essv6186638, essv6359032, essv5395707, essv5537069, essv6178715, essv5612305, essv6021366, essv6504676, essv6035566, essv5433244, essv6348266, essv5771694, essv6586080, essv5514453, essv6145248, essv5564218, essv5522332, essv6246997, essv6458390, essv5821608, essv6564387, essv6211838, essv5419591, essv5412756, essv6025496, essv6524305, essv6378638, essv6496737, essv5442739, essv5939209, essv5510668, essv6521362, essv6052975, essv6489030, essv5396953, essv5469455, essv5974201, essv6267820, essv6163997, essv5595518, essv6024887, essv5667359, essv6532657, essv6500146, essv6493247, essv6564634, essv6167377, essv6007420, essv6191922, essv6413402, essv5567443, essv5556332, essv5695319, essv6544469, essv5994732, essv5946458, essv6205828, essv5495160, essv6529145, essv5765397, essv5464183, essv5743292, essv6279639, essv5504570, essv6251387, essv6255718, essv6294993, essv5432880, essv6206822, essv6503184, essv6468158, essv6236901, essv5871646, essv5998445, essv5842691, essv6370143, essv6174596, essv5972754
SamplesNA12383, NA19701, NA12717, NA11830, NA19700, NA12842, NA11995, NA11829, NA10851, NA12273, NA12414, NA11920, NA11933, NA12045, NA12751, NA12004, NA12340, NA20332, NA12058, NA12750, NA12399, NA12155, NA07357, NA12413, NA12341, NA12813, NA20317, NA12348, NA20287, NA20336, NA19904, NA12761, NA11930, NA12275, NA06984, NA19917, NA11932, NA20340, NA11994, NA19901, NA20342, NA19985, NA19921, NA11993, NA11831, NA10847, NA12777, NA12489, NA12342, NA20314, NA19982, NA20126, NA20344, NA11919, NA20299, NA11894, NA12249, NA06989, NA12827, NA12144, NA12778, NA12546, NA20296, NA12716, NA11881, NA19834, NA20276, NA19712, NA07037, NA12763, NA12347, NA06986, NA06994, NA12749, NA20334, NA19713, NA12830, NA11843, NA19711, NA07056, NA11892, NA12006, NA07000, NA12154
Known GenesACOT1, HEATR4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664899
Frequency
Sample Size1151
Observed Gain0
Observed Loss84
Observed Complex0
Frequencyn/a


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