A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658904



Internal ID9578323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:110067915..110068618hg38UCSC Ensembl
chr9:112830195..112830898hg19UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg38704
hg19704
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5672377, essv6563299, essv6113528, essv6539628, essv5837282, essv5733690, essv6427549, essv5435250, essv5993366, essv6231241, essv6294017, essv5984972, essv6462736, essv5806922, essv5963812, essv6580448, essv5688753, essv5975108, essv5618161, essv5807982, essv6180879, essv6350391, essv6469059, essv5922470, essv6322139, essv5569468, essv5969133, essv6032212, essv5782834, essv5849485, essv5879223, essv5536402, essv6477342, essv6220021, essv5667630, essv6399616, essv5447783, essv6074369, essv6029871, essv5525940, essv5914286, essv6525618, essv6315165, essv5525381, essv6419901, essv6272666, essv5525530, essv5866223, essv5655692, essv6220697, essv5673839
SamplesNA19625, HG01440, NA19819, NA18933, NA18523, NA19437, NA19401, NA19455, NA20294, NA19319, NA19451, NA19338, HG00739, NA19461, NA18507, NA19355, HG01171, NA19463, NA20761, NA19982, NA18508, HG00638, NA19900, NA19107, NA19440, HG01360, NA19700, NA19316, NA19190, NA19247, NA19380, HG01437, NA19129, NA19372, NA19374, NA19703, NA20348, NA18486, NA19102, NA20344, NA18910, NA19382, NA18907, NA19818, NA19446, NA19452, NA19225, NA18917, NA19655, HG01374, NA19448
Known GenesAKAP2, PALM2-AKAP2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658904
Frequency
Sample Size1151
Observed Gain0
Observed Loss51
Observed Complex0
Frequencyn/a


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