A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731756



Internal ID9966074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:29003988..29004797hg38UCSC Ensembl
Outerchr6:28971765..28972574hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg38810
hg19810
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6934638, essv6759972, essv6818144, essv6703199, essv6754467, essv6764943, essv6757350, essv6956906, essv6825399, essv6963625, essv6782116, essv6974681, essv6903664, essv6759887, essv6911256, essv6734295
SamplesSSM010, SSM027, SSM013, SSM006, SSM061, SSM078, SSM029, SSM021, SSM063, SSM068, SSM015, SSM026, SSM049, SSM008, SSM058, SSM059
Known GenesZNF311
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)esv2731756
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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