A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746949



Internal ID9981233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:132303443..132305508hg38UCSC Ensembl
Outerchr12:132880029..132882094hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg382066
hg192066
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv215e201
Supporting Variantsessv6796136, essv6888074, essv6716903, essv6772158, essv6823737, essv6965959, essv6691697, essv6842544, essv6791958, essv6823736, essv6772159
SamplesSSM036, SSM071, SSM027, SSM079, SSM065, SSM084, SSM096, SSM070, SSM043
Known GenesGALNT9
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)esv2746949
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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