A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585361



Internal ID6972885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:17157609..17188093hg38UCSC Ensembl
Innerchr1:17157610..17188092hg38UCSC Ensembl
Outerchr1:17157608..17188094hg38UCSC Ensembl
chr1:17484104..17514588hg19UCSC Ensembl
Innerchr1:17484105..17514587hg19UCSC Ensembl
Outerchr1:17484103..17514589hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3830485
hg1930485
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9874787, essv9874804, essv9874789, essv9874806, essv9874805, essv9874793, essv9874795, essv9874797, essv9874790, essv9874785, essv9874792, essv9874803, essv9874791, essv9874794, essv9874799, essv9874801, essv9874788, essv9874800, essv9874798, essv9874796, essv9874802, essv9874786, essv9874807
SamplesHG03731, HG02784, NA20894, HG03603, HG03947, HG04020, NA20884, HG03832, HG04225, HG04146, HG03990, HG03771, HG03643, HG03953, HG03991, HG04118, HG04026, HG03875, HG04239, HG04099, NA21126, HG04056, HG03955
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585361
Frequency
Sample Size2504
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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