A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673573



Internal ID9939678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17187932..17188707hg38UCSC Ensembl
chr22:17668822..17669597hg19UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38776
hg19776
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5768539, essv6300821, essv6513572, essv6545525, essv5923412, essv6061155, essv6195072, essv6465648, essv6143819, essv5664137, essv5490310, essv5746329, essv6399418, essv5501185, essv6311630, essv5565509, essv5603407, essv6571966, essv6348384, essv6392884, essv6438832, essv5871597, essv5775984, essv5718687, essv5727229, essv5631928, essv6214139, essv5417088
SamplesNA12286, NA18603, HG00179, NA19920, NA18988, HG00127, HG01167, HG00173, NA19723, NA20513, NA19372, HG01440, HG00739, HG00264, HG01187, HG00245, NA20344, NA20538, HG01101, NA20765, HG00285, NA19334, NA19398, NA19223, NA12830, NA19004, NA19758, HG01125
Known GenesCECR1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673573
Frequency
Sample Size1151
Observed Gain0
Observed Loss28
Observed Complex0
Frequencyn/a


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