A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728586



Internal ID10312222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:156082405..156083939hg38UCSC Ensembl
Outerchr4:157003557..157005091hg19UCSC Ensembl
Cytoband4q32.1
Allele length
AssemblyAllele length
hg381535
hg191535
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6774273, essv6756920, essv6903378, essv6708079, essv6974061, essv6739627, essv6704662, essv6872437, essv6757128, essv6924752, essv6690089, essv6730507, essv6881140
SamplesSSM059, SSM036, SSM008, SSM013, SSM041, SSM047, SSM029, SSM094, SSM003, SSM066, SSM040, SSM091, SSM052
Known Genes
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)esv2728586
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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