A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6938604



Internal ID9699399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:155837031..155837163hg38UCSC Ensembl
Outerchr4:156758183..156758315hg19UCSC Ensembl
Cytoband4q32.1
Allele length
AssemblyAllele length
hg38133
hg19133
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2728572, esv2728570, esv2728571
Supporting Variants
SamplesSSM022
Known GenesASIC5
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)essv6938604
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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