A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736897



Internal ID10320533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:39096063..39096403hg38UCSC Ensembl
Outerchr8:38953582..38953922hg19UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38341
hg19341
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6856182, essv6866334, essv6827040, essv6811767, essv6716157, essv6787088, essv6683199, essv6838017, essv6795344, essv6834348, essv6931140, essv6904330, essv6698332, essv6814888, essv6677173, essv6691051, essv6884668, essv6830739, essv6887504, essv6881871, essv6687787
SamplesSSM036, SSM083, SSM071, SSM087, SSM038, SSM013, SSM069, SSM096, SSM089, SSM035, SSM094, SSM032, SSM081, SSM082, SSM020, SSM005, SSM080, SSM077, SSM076, SSM095, SSM043
Known GenesADAM9
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2736897
Frequency
Sample Size96
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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