A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745691



Internal ID9979975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:29794991..29795587hg38UCSC Ensembl
Outerchr12:29947924..29948520hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38597
hg19597
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6912604, essv6920188, essv6977185, essv6772049
SamplesSSM065, SSM029, SSM017, SSM015
Known Genes
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)esv2745691
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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