A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6697588



Internal ID10112056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:70481305..70481451hg38UCSC Ensembl
Outerchr4:71347022..71347168hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg38147
hg19147
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727789, esv2727790
Supporting Variants
SamplesSSM038
Known GenesMUC7
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)essv6697588
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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