A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745924



Internal ID10326894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:55608478..55610462hg38UCSC Ensembl
Outerchr12:56002262..56004246hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg381985
hg191985
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6695569, essv6838645, essv6791877, essv6885102, essv6949113, essv6749701, essv6775722, essv6709522, essv6803530, essv6765783, essv6862419, essv6724527, essv6728350, essv6691625, essv6755578, essv6831330, essv6953251, essv6904936, essv6783584
SamplesSSM036, SSM083, SSM024, SSM045, SSM046, SSM013, SSM073, SSM088, SSM041, SSM058, SSM066, SSM068, SSM081, SSM037, SSM070, SSM095, SSM025, SSM056, SSM063
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)esv2745924
Frequency
Sample Size96
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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