A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6976426



Internal ID9735000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:1214026..1214119hg38UCSC Ensembl
Outerchr10:1259966..1260059hg19UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2729585, esv2729596
Supporting Variants
SamplesSSM029
Known GenesADARB2
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)essv6976426
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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