A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594526



Internal ID6981846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:227046243..227047425hg38UCSC Ensembl
Innerchr2:227046243..227047425hg38UCSC Ensembl
Outerchr2:227046189..227047610hg38UCSC Ensembl
chr2:227910959..227912141hg19UCSC Ensembl
Innerchr2:227910959..227912141hg19UCSC Ensembl
Outerchr2:227910905..227912326hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg381183
hg191183
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10870018, essv10870016, essv10870013, essv10870026, essv10870024, essv10870027, essv10870009, essv10870011, essv10870012, essv10870008, essv10870023, essv10870030, essv10870025, essv10870014, essv10870019, essv10870028, essv10870017, essv10870021, essv10870020, essv10870029, essv10870015, essv10870022, essv10870010
SamplesHG02852, HG02419, NA20321, NA20298, HG03518, HG03099, NA20320, HG02981, HG02143, HG02946, NA19152, HG02511, NA19160, HG02330, NA19108, NA19434, NA19380, NA19117, HG02970, HG01912, NA19900, NA18511, HG03198
Known GenesCOL4A4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594526
Frequency
Sample Size2504
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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