A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588267



Internal ID6975685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:189567196..189648578hg38UCSC Ensembl
chr1:189536326..189617708hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3881383
hg1981383
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv69e214
Supporting Variantsessv10227580, essv10227581, essv10227576, essv10227578, essv10227579, essv10227577
SamplesHG00608, NA20878, NA20896, NA18640, NA18553, HG02601
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588267
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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