A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3595052



Internal ID6982371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:3131503..3135391hg38UCSC Ensembl
Innerchr3:3131553..3135341hg38UCSC Ensembl
Outerchr3:3131431..3135463hg38UCSC Ensembl
chr3:3173187..3177075hg19UCSC Ensembl
Innerchr3:3173237..3177025hg19UCSC Ensembl
Outerchr3:3173115..3177147hg19UCSC Ensembl
Cytoband3p26.2
Allele length
AssemblyAllele length
hg383889
hg193889
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10901994, essv10901988, essv10901995, essv10901984, essv10901996, essv10901987, essv10902005, essv10901993, essv10902002, essv10901989, essv10901999, essv10902000, essv10901997, essv10901990, essv10902004, essv10901992, essv10901991, essv10901985, essv10901986, essv10902001, essv10902003, essv10901998
SamplesHG00650, HG00592, HG00608, NA18641, NA18940, NA18550, HG00610, NA19054, NA18986, NA19082, HG00596, HG02165, HG00956, HG02494, NA18961, NA18628, NA19010, HG02128, NA18631, HG01028, HG02032, NA18965
Known GenesTRNT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3595052
Frequency
Sample Size2504
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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