A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587714



Internal ID6975137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:160464672..160467808hg38UCSC Ensembl
Innerchr1:160464672..160467808hg38UCSC Ensembl
Outerchr1:160464491..160467992hg38UCSC Ensembl
chr1:160434462..160437598hg19UCSC Ensembl
Innerchr1:160434462..160437598hg19UCSC Ensembl
Outerchr1:160434281..160437782hg19UCSC Ensembl
Cytoband1q23.2
Allele length
AssemblyAllele length
hg383137
hg193137
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10167787, essv10167791, essv10167788, essv10167789, essv10167790
SamplesNA19704, HG02573, HG02009, HG01914, NA19121
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587714
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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