A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6968949



Internal ID10076112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:163580810..163581119hg38UCSC Ensembl
Outerchr4:164501962..164502271hg19UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg38310
hg19310
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2728666
Supporting Variants
SamplesSSM028
Known GenesMARCH1
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)essv6968949
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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