A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588807



Internal ID6976223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:215280324..215357946hg38UCSC Ensembl
chr1:215453667..215531289hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3877623
hg1977623
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10292607, essv10292608
SamplesHG01682, HG01786
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588807
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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