A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727081



Internal ID10310717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:7797926..7798695hg38UCSC Ensembl
Outerchr4:7799653..7800422hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38770
hg19770
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6686753, essv6836883, essv6951344, essv6733971, essv6833260, essv6956027, essv6817461, essv6730339, essv6968748, essv6711306, essv6679889
SamplesSSM083, SSM042, SSM028, SSM047, SSM026, SSM035, SSM033, SSM082, SSM078, SSM025, SSM049
Known GenesAFAP1
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)esv2727081
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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