A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6777752



Internal ID9836772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:110593992..110594119hg38UCSC Ensembl
Outerchr4:111515148..111515275hg19UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg38128
hg19128
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2728138, esv2728141, esv2728142
Supporting Variants
SamplesSSM067
Known Genes
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)essv6777752
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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