A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588662



Internal ID6628953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:206867210..206871906hg38UCSC Ensembl
Innerchr1:206867210..206871906hg38UCSC Ensembl
Outerchr1:206866858..206872154hg38UCSC Ensembl
chr1:207040555..207045251hg19UCSC Ensembl
Innerchr1:207040555..207045251hg19UCSC Ensembl
Outerchr1:207040203..207045499hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg384697
hg194697
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10274478, essv10274480, essv10274483, essv10274476, essv10274482, essv10274485, essv10274486, essv10274487, essv10274477, essv10274475, essv10274481, essv10274479, essv10274488, essv10274484
SamplesHG02339, HG02798, HG03224, NA19681, HG02573, HG02716, HG02977, NA19707, HG03547, HG03461, HG01685, HG03025, NA19116, HG03439
Known GenesIL20
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588662
Frequency
Sample Size2504
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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