A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6849737



Internal ID10248244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:147186870..147187072hg38UCSC Ensembl
Outerchr7:146883962..146884164hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38203
hg19203
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735304, esv2735305
Supporting Variants
SamplesSSM086
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)essv6849737
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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