A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6745622



Internal ID9809319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:143979989..144083211hg38UCSC Ensembl
Outerchr4:144901142..145004364hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38103223
hg19103223
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2728476, esv2728480, esv2728481
Supporting Variants
SamplesSSM055
Known GenesGYPB
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)essv6745622
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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