A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588335



Internal ID6975751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:191792924..191916032hg38UCSC Ensembl
Innerchr1:191793424..191915532hg38UCSC Ensembl
Outerchr1:191791924..191917032hg38UCSC Ensembl
chr1:191762054..191885162hg19UCSC Ensembl
Innerchr1:191762554..191884662hg19UCSC Ensembl
Outerchr1:191761054..191886162hg19UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg38123109
hg19123109
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10235333, essv10235332
SamplesHG02561, NA19436
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588335
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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