A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3595891



Internal ID6636165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:37399017..37400482hg38UCSC Ensembl
Innerchr3:37399017..37400482hg38UCSC Ensembl
Outerchr3:37398795..37400798hg38UCSC Ensembl
chr3:37440508..37441973hg19UCSC Ensembl
Innerchr3:37440508..37441973hg19UCSC Ensembl
Outerchr3:37440286..37442289hg19UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg381466
hg191466
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10982655, essv10982648, essv10982644, essv10982642, essv10982647, essv10982646, essv10982635, essv10982631, essv10982638, essv10982645, essv10982650, essv10982653, essv10982656, essv10982641, essv10982632, essv10982639, essv10982637, essv10982633, essv10982634, essv10982640, essv10982649, essv10982654, essv10982636, essv10982651, essv10982643, essv10982652
SamplesHG03135, HG03354, HG02284, NA19310, HG03055, HG03301, NA19019, NA19147, NA19383, NA19917, HG02554, NA20127, NA19351, HG01161, NA19042, NA19324, HG02224, HG02562, HG01914, NA19131, HG03132, NA19431, NA19041, HG03369, NA19350, HG03082
Known GenesC3orf35
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3595891
Frequency
Sample Size2504
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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