A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2658904

Internal ID9578323
Location Information
TypeCoordinatesAssemblyOther Links
chr9:110067915..110068618hg38UCSC Ensembl
chr9:112830195..112830898hg19UCSC Ensembl
Allele length
AssemblyAllele length
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
AnalysisNo reference, merging analysis
CommentsHigh quality site
Pubmed ID23128226
Accession Number(s)esv2658904
Sample Size1151
Observed Gain0
Observed Loss51
Observed Complex0

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