A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672512



Internal ID9591931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:110061732..110062037hg38UCSC Ensembl
chr9:112824012..112824317hg19UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg38306
hg19306
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6180543, essv6232067, essv6052753, essv6091723, essv6545853, essv6155637, essv6367318, essv5932195, essv5520098, essv5658802, essv5481287, essv6370043, essv5834903, essv5903926, essv5720166, essv5417033, essv6456328, essv6320420, essv5614994, essv6054053, essv5608785, essv5980645, essv5723673, essv6000621, essv6309808, essv6416313, essv6098343, essv6545535, essv6584757, essv6356256, essv6019335, essv6226636, essv6404875, essv5497411, essv5521018, essv6447185, essv6036757, essv5618269, essv6132572, essv5968917
SamplesNA19152, NA19625, HG01250, NA19819, NA18523, NA19401, NA20294, NA19670, NA20759, HG00739, NA18507, NA19355, HG01171, NA19463, NA19914, NA18508, NA20801, NA19440, NA19190, NA19247, NA19380, NA19129, NA19372, NA20348, NA19102, NA20344, NA19119, NA18942, NA18910, NA19382, HG01190, NA18907, NA19116, NA20287, NA19446, NA19225, NA19655, NA11829, HG01498, HG01374
Known GenesAKAP2, PALM2-AKAP2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672512
Frequency
Sample Size1151
Observed Gain0
Observed Loss40
Observed Complex0
Frequencyn/a


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