A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715034



Internal ID9949319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:88741253..88742101hg38UCSC Ensembl
Outerchr16:88807661..88808509hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38849
hg19849
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6838954, essv6674152, essv6863101, essv6852150, essv6858125, essv6960298, essv6665661, essv6867903
SamplesSSM010, SSM086, SSM088, SSM089, SSM031, SSM029, SSM087, SSM026
Known GenesLOC100289580, PIEZO1
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)esv2715034
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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