A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596041



Internal ID6636315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:44914366..44915798hg38UCSC Ensembl
Innerchr3:44914411..44915754hg38UCSC Ensembl
Outerchr3:44914322..44915843hg38UCSC Ensembl
chr3:44955858..44957290hg19UCSC Ensembl
Innerchr3:44955903..44957246hg19UCSC Ensembl
Outerchr3:44955814..44957335hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg381433
hg191433
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10993625, essv10993624, essv10993623, essv10993626, essv10993622
SamplesNA19043, HG03376, HG03539, NA20291, HG01985
Known GenesTGM4, ZDHHC3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596041
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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