A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738028



Internal ID10321664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:6004718..6005851hg38UCSC Ensembl
Outerchr1:6064778..6065911hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg381134
hg191134
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6961533, essv6816568, essv6789131, essv6863937, essv6721991, essv6821163, essv6843871, essv6972308, essv6668919, essv6898594, essv6906089, essv6853211, essv6941766, essv6738796, essv6686144, essv6954715, essv6846991, essv6733470
SamplesSSM100, SSM027, SSM045, SSM079, SSM087, SSM023, SSM029, SSM026, SSM089, SSM035, SSM031, SSM014, SSM086, SSM085, SSM078, SSM070, SSM052, SSM049
Known GenesKCNAB2
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)esv2738028
Frequency
Sample Size96
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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