A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3634524



Internal ID7021327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:52559500..52564925hg38UCSC Ensembl
Innerchr14:52559502..52564923hg38UCSC Ensembl
Outerchr14:52559498..52564927hg38UCSC Ensembl
chr14:53026218..53031643hg19UCSC Ensembl
Innerchr14:53026220..53031641hg19UCSC Ensembl
Outerchr14:53026216..53031645hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg385426
hg195426
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15014001, essv15014004, essv15014000, essv15013997, essv15014002, essv15013998, essv15014007, essv15014003, essv15014009, essv15014006, essv15014005, essv15014008, essv15013999
SamplesHG02385, HG02382, NA18633, HG02180, HG00657, HG04195, NA18572, HG00684, HG02081, NA18564, HG01868, NA18609, HG02182
Known GenesGPR137C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3634524
Frequency
Sample Size2504
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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