A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728486



Internal ID10312122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:145038752..145039107hg38UCSC Ensembl
Outerchr4:145959904..145960259hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38356
hg19356
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6858264, essv6736655, essv6925707, essv6762388, essv6759720, essv6754202, essv6751286
SamplesSSM050, SSM002, SSM057, SSM058, SSM061, SSM062, SSM001
Known GenesANAPC10
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)esv2728486
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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