A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6830538



Internal ID10230967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:147575080..147575416hg38UCSC Ensembl
Outerchr7:147272172..147272508hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38337
hg19337
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735310, esv2735311
Supporting Variants
SamplesSSM081
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)essv6830538
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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