A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714935



Internal ID9949220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:87733604..87733747hg38UCSC Ensembl
Outerchr16:87767210..87767353hg19UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg38144
hg19144
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6858115, essv6665648, essv6742919, essv6696186, essv6703073, essv6852140, essv6831888, essv6916705, essv6668495, essv6949722, essv6909457, essv6960287, essv6800878, essv6913203
SamplesSSM007, SSM086, SSM072, SSM016, SSM039, SSM024, SSM029, SSM030, SSM037, SSM087, SSM015, SSM026, SSM014, SSM081
Known GenesKLHDC4
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)esv2714935
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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