A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588073



Internal ID6628373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:180780629..180786278hg38UCSC Ensembl
Innerchr1:180780629..180786278hg38UCSC Ensembl
Outerchr1:180780300..180786660hg38UCSC Ensembl
chr1:180749765..180755414hg19UCSC Ensembl
Innerchr1:180749765..180755414hg19UCSC Ensembl
Outerchr1:180749436..180755796hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg385650
hg195650
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10200508, essv10200529, essv10200518, essv10200521, essv10200511, essv10200530, essv10200528, essv10200524, essv10200526, essv10200522, essv10200515, essv10200510, essv10200520, essv10200532, essv10200509, essv10200507, essv10200514, essv10200525, essv10200512, essv10200523, essv10200516, essv10200527, essv10200517, essv10200519, essv10200513, essv10200531
SamplesHG01173, NA12286, HG03821, HG04229, NA19704, HG01971, HG01168, NA20905, HG01710, HG01083, HG04131, NA12156, HG00262, HG01256, NA20535, HG01501, HG01122, HG01104, NA12878, HG00551, HG03021, NA19740, HG03672, HG04188, HG03615, HG01507
Known GenesXPR1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588073
Frequency
Sample Size2504
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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