A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10315231



Internal ID317047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:229331123..229332381hg38UCSC Ensembl
Innerchr1:229331133..229332371hg38UCSC Ensembl
Outerchr1:229331113..229332391hg38UCSC Ensembl
chr1:229466870..229468128hg19UCSC Ensembl
Innerchr1:229466880..229468118hg19UCSC Ensembl
Outerchr1:229466860..229468138hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg381259
hg191259
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589073
Supporting Variants
SamplesHG03572
Known GenesCCSAP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10315231
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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