A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718790



Internal ID9953082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:52580804..52581053hg38UCSC Ensembl
Outerchr19:53084057..53084306hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg38250
hg19250
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6863658, essv6858818, essv6909824, essv6852851, essv6961063, essv6868454, essv6666521, essv6895602, essv6885798, essv6892117
SamplesSSM087, SSM097, SSM088, SSM029, SSM026, SSM089, SSM014, SSM086, SSM095, SSM098
Known GenesZNF701
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)esv2718790
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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