A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714195



Internal ID9948479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:31515468..31810156hg38UCSC Ensembl
Outerchr16:31526789..31821477hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38294689
hg19294689
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6838320, essv6673982, essv6882694, essv6796531, essv6839118, essv6812583, essv6763693, essv6870209, essv6828207, essv6891689, essv6665501, essv6909357, essv6673983
SamplesSSM083, SSM071, SSM011, SSM097, SSM029, SSM062, SSM094, SSM031, SSM014, SSM080, SSM076, SSM010
Known GenesAHSP, CLUHP3, YBX3P1, ZNF720
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)esv2714195
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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