A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588033



Internal ID6628333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:178327037..178328036hg38UCSC Ensembl
Innerchr1:178327087..178327986hg38UCSC Ensembl
Outerchr1:178326971..178328102hg38UCSC Ensembl
chr1:178296172..178297171hg19UCSC Ensembl
Innerchr1:178296222..178297121hg19UCSC Ensembl
Outerchr1:178296106..178297237hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg381000
hg191000
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10193456, essv10193457
SamplesNA19682, HG01242
Known GenesRASAL2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588033
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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