A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9974715



Internal ID3030144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:74364077..74364832hg38UCSC Ensembl
Innerchr1:74364077..74364832hg38UCSC Ensembl
Outerchr1:74363764..74365167hg38UCSC Ensembl
chr1:74829761..74830516hg19UCSC Ensembl
Innerchr1:74829761..74830516hg19UCSC Ensembl
Outerchr1:74829448..74830851hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38756
hg19756
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586458
Supporting Variants
SamplesHG02666
Known GenesFPGT-TNNI3K, TNNI3K
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9974715
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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