A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587915



Internal ID6975338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:171439776..171442858hg38UCSC Ensembl
Innerchr1:171439926..171442708hg38UCSC Ensembl
Outerchr1:171439626..171443008hg38UCSC Ensembl
chr1:171408915..171411997hg19UCSC Ensembl
Innerchr1:171409065..171411847hg19UCSC Ensembl
Outerchr1:171408765..171412147hg19UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg383083
hg193083
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10188397, essv10188393, essv10188391, essv10188392, essv10188390, essv10188389, essv10188396, essv10188398, essv10188400, essv10188395, essv10188399, essv10188388, essv10188394
SamplesNA19384, HG03079, HG01893, HG03212, NA19238, HG02946, NA18864, NA19025, HG02322, HG01941, HG02282, NA19213, NA19030
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587915
Frequency
Sample Size2504
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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