A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735323



Internal ID9969653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:148409726..148410018hg38UCSC Ensembl
Outerchr7:148106818..148107110hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38293
hg19293
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6706054, essv6667265, essv6975459, essv6757647, essv6667762, essv6754856, essv6737257, essv6762874, essv6902930
SamplesSSM006, SSM001, SSM050, SSM062, SSM029, SSM030, SSM002, SSM058, SSM059
Known GenesCNTNAP2
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)esv2735323
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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