A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6685044



Internal ID9753080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:1121639..1122589hg38UCSC Ensembl
Outerchr12:1230805..1231755hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38951
hg19951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745382, esv2745384
Supporting Variants
SamplesSSM034
Known GenesERC1
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)essv6685044
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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