A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6741113



Internal ID9802104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:95946576..95949134hg38UCSC Ensembl
Outerchr12:96340354..96342912hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg382559
hg192559
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2746242
Supporting Variants
SamplesSSM052
Known GenesAMDHD1
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)essv6741113
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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