A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745636



Internal ID9979920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:23642810..23643096hg38UCSC Ensembl
Outerchr12:23795744..23796030hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38287
hg19287
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6851169, essv6862371
SamplesSSM086, SSM088
Known GenesSOX5
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)esv2745636
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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