A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727074



Internal ID9961382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:7756158..7757234hg38UCSC Ensembl
Outerchr4:7757885..7758961hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg381077
hg191077
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6947248, essv6794079, essv6759594, essv6774126, essv6730338, essv6804991, essv6973743, essv6789919, essv6918194, essv6934098, essv6829668, essv6883120, essv6670171
SamplesSSM071, SSM024, SSM074, SSM021, SSM047, SSM061, SSM029, SSM017, SSM031, SSM066, SSM081, SSM070, SSM012
Known GenesAFAP1-AS1
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)esv2727074
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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