A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588998



Internal ID6976414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:225561054..225562394hg38UCSC Ensembl
Innerchr1:225561113..225562335hg38UCSC Ensembl
Outerchr1:225560995..225562453hg38UCSC Ensembl
chr1:225748756..225750096hg19UCSC Ensembl
Innerchr1:225748815..225750037hg19UCSC Ensembl
Outerchr1:225748697..225750155hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg381341
hg191341
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10308298
SamplesHG00449
Known GenesENAH
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588998
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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