A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585302



Internal ID6972827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:15160451..15164987hg38UCSC Ensembl
Innerchr1:15160451..15164987hg38UCSC Ensembl
Outerchr1:15160138..15165314hg38UCSC Ensembl
chr1:15486947..15491483hg19UCSC Ensembl
Innerchr1:15486947..15491483hg19UCSC Ensembl
Outerchr1:15486634..15491810hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg384537
hg194537
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9863526, essv9863524, essv9863533, essv9863539, essv9863530, essv9863532, essv9863535, essv9863520, essv9863541, essv9863527, essv9863529, essv9863538, essv9863519, essv9863528, essv9863518, essv9863523, essv9863536, essv9863531, essv9863534, essv9863521, essv9863522, essv9863540, essv9863537, essv9863525
SamplesHG02574, NA19466, HG03515, HG03479, HG02461, HG02420, HG01198, HG03088, NA19658, HG03081, HG02537, HG03202, HG02309, NA20282, NA19095, HG01363, NA19206, NA19019, NA19467, HG01108, NA19475, NA19102, HG03077, HG02006
Known GenesC1orf195, TMEM51
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585302
Frequency
Sample Size2504
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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