A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588682



Internal ID6976098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:208261092..208262637hg38UCSC Ensembl
Innerchr1:208261100..208262630hg38UCSC Ensembl
Outerchr1:208261085..208262645hg38UCSC Ensembl
chr1:208434437..208435982hg19UCSC Ensembl
Innerchr1:208434445..208435975hg19UCSC Ensembl
Outerchr1:208434430..208435990hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg381546
hg191546
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10280524, essv10280525, essv10280526
SamplesNA19098, HG02756, HG03027
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588682
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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