A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714685



Internal ID9948969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:72054836..72063593hg38UCSC Ensembl
Outerchr16:72088735..72097492hg19UCSC Ensembl
Cytoband16q22.2
Allele length
AssemblyAllele length
hg388758
hg198758
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6721271, essv6685579, essv6912029, essv6735546, essv6960253, essv6703052, essv6742742, essv6709970, essv6665609, essv6755980, essv6940956, essv6846395, essv6843047, essv6741549, essv6909446, essv6714421, essv6943584
SamplesSSM039, SSM002, SSM041, SSM058, SSM084, SSM029, SSM026, SSM003, SSM044, SSM014, SSM006, SSM085, SSM007, SSM022, SSM034, SSM052, SSM049
Known GenesHP, HPR
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)esv2714685
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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