A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731051



Internal ID9965368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:3048272..3048849hg38UCSC Ensembl
Outerchr10:3090464..3091041hg19UCSC Ensembl
Cytoband10p15.2
Allele length
AssemblyAllele length
hg38578
hg19578
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6939953, essv6695149, essv6755249, essv6827330, essv6830966, essv6856619, essv6965177, essv6912233, essv6740747, essv6958639, essv6970395, essv6952847, essv6935725, essv6845660, essv6681247, essv6787380, essv6768586, essv6904572, essv6861926, essv6716409
SamplesSSM008, SSM027, SSM087, SSM013, SSM088, SSM058, SSM028, SSM021, SSM069, SSM026, SSM033, SSM085, SSM081, SSM015, SSM080, SSM037, SSM022, SSM025, SSM043, 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)esv2731051
Frequency
Sample Size96
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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