A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731885



Internal ID9966203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:33125609..33125963hg38UCSC Ensembl
Outerchr6:33093386..33093740hg19UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg38355
hg19355
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6683991, essv6887015, essv6963731, essv6899715, essv6805444, essv6687249, essv6865591, essv6701082, essv6808429, essv6794653, essv6860872, essv6814329, essv6774589, essv6705038, essv6818215, essv6798868, essv6890227, essv6833796, essv6719436, essv6786403, essv6974770, essv6708448, essv6855221, essv6849124, essv6694160, essv6826408, essv6671100, essv6711844, essv6676571
SamplesSSM100, SSM071, SSM027, SSM075, SSM087, SSM097, SSM039, SSM074, SSM042, SSM088, SSM041, SSM069, SSM029, SSM096, SSM089, SSM035, SSM032, SSM031, SSM044, SSM086, SSM066, SSM040, SSM072, SSM082, SSM078, SSM080, SSM037, SSM077, SSM034
Known GenesHLA-DPB2
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)esv2731885
Frequency
Sample Size96
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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