A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607963



Internal ID6994894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:4996595..4998693hg38UCSC Ensembl
Innerchr6:4996595..4998693hg38UCSC Ensembl
Outerchr6:4996323..4998937hg38UCSC Ensembl
chr6:4996829..4998927hg19UCSC Ensembl
Innerchr6:4996829..4998927hg19UCSC Ensembl
Outerchr6:4996557..4999171hg19UCSC Ensembl
Cytoband6p25.1
Allele length
AssemblyAllele length
hg382099
hg192099
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12179587
SamplesHG00256
Known GenesRPP40
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607963
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer