A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737025



Internal ID10320661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:56387104..56387853hg38UCSC Ensembl
Outerchr8:57299663..57300412hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38750
hg19750
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6861610, essv6923671, essv6765411, essv6958141, essv6683820, essv6818948, essv6850173, essv6740526, essv6672108, essv6975970, essv6667907, essv6856206
SamplesSSM087, SSM088, SSM018, SSM029, SSM026, SSM031, SSM001, SSM086, SSM078, SSM052, SSM030, SSM063
Known GenesSDR16C6P
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)esv2737025
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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