A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585812



Internal ID6626127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:40677587..40678336hg38UCSC Ensembl
Innerchr1:40677637..40678286hg38UCSC Ensembl
Outerchr1:40677491..40678432hg38UCSC Ensembl
chr1:41143259..41144008hg19UCSC Ensembl
Innerchr1:41143309..41143958hg19UCSC Ensembl
Outerchr1:41143163..41144104hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38750
hg19750
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9916970, essv9916969, essv9916968
SamplesHG01965, NA19466, NA19310
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585812
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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