A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588126



Internal ID6628426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:184433193..184434355hg38UCSC Ensembl
Innerchr1:184433195..184434354hg38UCSC Ensembl
Outerchr1:184433192..184434357hg38UCSC Ensembl
chr1:184402327..184403489hg19UCSC Ensembl
Innerchr1:184402329..184403488hg19UCSC Ensembl
Outerchr1:184402326..184403491hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg381163
hg191163
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10211050, essv10211043, essv10211047, essv10211048, essv10211049, essv10211044, essv10211040, essv10211041, essv10211042, essv10211039, essv10211051, essv10211045, essv10211046
SamplesHG00736, HG01935, HG02104, HG02105, NA19780, HG01363, HG01176, HG01257, HG02266, HG01991, HG01162, NA19747, HG02425
Known GenesC1orf21
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588126
Frequency
Sample Size2504
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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