A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3598676



Internal ID6985811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:172695825..172697717hg38UCSC Ensembl
Innerchr3:172695875..172697667hg38UCSC Ensembl
Outerchr3:172695749..172697793hg38UCSC Ensembl
chr3:172413615..172415507hg19UCSC Ensembl
Innerchr3:172413665..172415457hg19UCSC Ensembl
Outerchr3:172413539..172415583hg19UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg381893
hg191893
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11228451
SamplesHG03057
Known GenesNCEH1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3598676
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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