A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644682



Internal ID6684748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:51869517..51925503hg38UCSC Ensembl
Innerchr19:51869667..51925353hg38UCSC Ensembl
Outerchr19:51869367..51925653hg38UCSC Ensembl
chr19:52372770..52428756hg19UCSC Ensembl
Innerchr19:52372920..52428606hg19UCSC Ensembl
Outerchr19:52372620..52428906hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg3855987
hg1955987
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16081556, essv16081555
SamplesNA19917, NA11832
Known GenesZNF577, ZNF649
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644682
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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