A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586456



Internal ID6973976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:74291496..74293894hg38UCSC Ensembl
Innerchr1:74291504..74293887hg38UCSC Ensembl
Outerchr1:74291489..74293902hg38UCSC Ensembl
chr1:74757180..74759578hg19UCSC Ensembl
Innerchr1:74757188..74759571hg19UCSC Ensembl
Outerchr1:74757173..74759586hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg382399
hg192399
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9974708
SamplesHG02624
Known GenesFPGT-TNNI3K, TNNI3K
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586456
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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