A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718636



Internal ID9952928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:45770034..45770403hg38UCSC Ensembl
Outerchr19:46273292..46273661hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg38370
hg19370
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6696729, essv6788848, essv6674829, essv6828748, essv6961037, essv6685934
SamplesSSM069, SSM026, SSM031, SSM080, SSM037, SSM034
Known GenesDMPK
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)esv2718636
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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