A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586370



Internal ID6626683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:70963921..71006045hg38UCSC Ensembl
Innerchr1:70963943..71006024hg38UCSC Ensembl
Outerchr1:70963900..71006067hg38UCSC Ensembl
chr1:71429604..71471728hg19UCSC Ensembl
Innerchr1:71429626..71471707hg19UCSC Ensembl
Outerchr1:71429583..71471750hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3842125
hg1942125
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9964789, essv9964788, essv9964791, essv9964790, essv9964792
SamplesHG02330, HG02979, NA21088, HG02716, HG03241
Known GenesPTGER3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586370
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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