A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738306



Internal ID10321942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:71496592..71497573hg38UCSC Ensembl
Outerchr10:73256349..73257330hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg38982
hg19982
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv101e201
Supporting Variantsessv6672689, essv6769231, essv6760743, essv6765596, essv6968962, essv6862028, essv6737678, essv6734993, essv6965307, essv6958769, essv6856741, essv6768278, essv6935811, essv6763204
SamplesSSM008, SSM027, SSM064, SSM087, SSM050, SSM088, SSM021, SSM061, SSM062, SSM026, SSM031, SSM004, SSM049, SSM063
Known GenesCDH23
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)esv2738306
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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