A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585295



Internal ID6972820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:14948229..14953121hg38UCSC Ensembl
chr1:15274725..15279617hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg384893
hg194893
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9e214
Supporting Variantsessv9863430, essv9863426, essv9863431, essv9863429, essv9863428, essv9863427, essv9863432
SamplesNA20332, HG03577, NA19036, HG02968, HG03024, NA19099, NA19375
Known GenesKAZN
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585295
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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