A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6957637



Internal ID10066245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:147575156..147575259hg38UCSC Ensembl
Outerchr7:147272248..147272351hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38104
hg19104
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735312, esv2735310, esv2735311
Supporting Variants
SamplesSSM026
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)essv6957637
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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