A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6964806



Internal ID9991095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:158334149..158337038hg38UCSC Ensembl
Outerchr7:158126841..158129730hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg382890
hg192890
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735937, esv2735929, esv2735925, esv2735934, esv2735933, esv2735931, esv2735936, esv2735932
Supporting Variants
SamplesSSM004
Known GenesPTPRN2
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)essv6964806
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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