A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6697021



Internal ID9764829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:68128854..68129144hg38UCSC Ensembl
Outerchr1:68594537..68594827hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38291
hg19291
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2749463, esv2749475
Supporting Variants
SamplesSSM038
Known GenesGNG12-AS1, WLS
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)essv6697021
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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