A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9974710



Internal ID6138990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:74334611..74348202hg38UCSC Ensembl
Innerchr1:74334611..74348202hg38UCSC Ensembl
Outerchr1:74334111..74348702hg38UCSC Ensembl
chr1:74800295..74813886hg19UCSC Ensembl
Innerchr1:74800295..74813886hg19UCSC Ensembl
Outerchr1:74799795..74814386hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3813592
hg1913592
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586457
Supporting Variants
SamplesNA19676
Known GenesFPGT-TNNI3K, TNNI3K
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9974710
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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