A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718532



Internal ID10302168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:38344420..38344776hg38UCSC Ensembl
Outerchr19:38835060..38835416hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38357
hg19357
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6946144, essv6843548, essv6792941, essv6666474, essv6780513, essv6689074, essv6932970, essv6937338, essv6909797, essv6902255, essv6892105, essv6925371, essv6781698, essv6828735, essv6733185, essv6703562, essv6747580, essv6921369, essv6967502, essv6874520
SamplesSSM008, SSM027, SSM011, SSM097, SSM039, SSM023, SSM084, SSM021, SSM047, SSM018, SSM029, SSM017, SSM035, SSM067, SSM014, SSM020, SSM080, SSM055, SSM070, SSM012
Known GenesCATSPERG
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)esv2718532
Frequency
Sample Size96
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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