A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6844608



Internal ID9896943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:143984259..144087625hg38UCSC Ensembl
Outerchr4:144905412..145008778hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38103367
hg19103367
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2728476, esv2728480, esv2728481
Supporting Variants
SamplesSSM085
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)essv6844608
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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