A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718444



Internal ID9952735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:30500323..30500920hg38UCSC Ensembl
Outerchr19:30991230..30991827hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg38598
hg19598
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6902246, essv6769273, essv6954364, essv6725506, essv6721688, essv6921356, essv6750392, essv6905839, essv6874447, essv6832294, essv6824661, essv6807150
SamplesSSM013, SSM091, SSM064, SSM025, SSM045, SSM012, SSM056, SSM017, SSM079, SSM044, SSM074, SSM081
Known GenesZNF536
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)esv2718444
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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