A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596329



Internal ID6983646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:61078833..61105377hg38UCSC Ensembl
Innerchr3:61078833..61105377hg38UCSC Ensembl
Outerchr3:61078333..61105877hg38UCSC Ensembl
chr3:61064506..61091050hg19UCSC Ensembl
Innerchr3:61064506..61091050hg19UCSC Ensembl
Outerchr3:61064006..61091550hg19UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg3826545
hg1926545
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv894e214
Supporting Variantsessv11025983, essv11025982
SamplesNA18621, HG01256
Known GenesFHIT
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596329
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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