A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6854667



Internal ID9905997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:175817087..177875422hg38UCSC Ensembl
Outerchr4:176738238..178796576hg19UCSC Ensembl
Cytoband4q34.2
Allele length
AssemblyAllele length
hg382058336
hg192058339
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2728772
Supporting Variants
SamplesSSM087
Known GenesAGA, ASB5, GPM6A, LINC01098, LINC01099, NEIL3, SPATA4, SPCS3, VEGFC, WDR17
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)essv6854667
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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