A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737292



Internal ID10320928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:91520140..91528706hg38UCSC Ensembl
Outerchr8:92532368..92540934hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg388567
hg198567
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6861648, essv6881903, essv6856249, essv6894117, essv6771478, essv6890772, essv6927410, essv6944226, essv6746403, essv6923695, essv6743604, essv6830742, essv6823039, essv6752123, essv6763013, essv6976016, essv6755070, essv6775172, essv6733898, essv6766721, essv6684572, essv6870301, essv6768048, essv6795386, essv6687824, essv6727758, essv6805934, essv6958193, essv6782915, essv6667919
SamplesSSM008, SSM071, SSM046, SSM064, SSM079, SSM065, SSM087, SSM097, SSM074, SSM088, SSM057, SSM023, SSM058, SSM090, SSM018, SSM029, SSM062, SSM026, SSM019, SSM035, SSM094, SSM066, SSM068, SSM007, SSM053, SSM010, SSM055, SSM034, SSM098, SSM030
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)esv2737292
Frequency
Sample Size96
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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