A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585255



Internal ID6972779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:13111300..13120001hg38UCSC Ensembl
Innerchr1:13111300..13120001hg38UCSC Ensembl
Outerchr1:13111193..13120243hg38UCSC Ensembl
chr1:13178772..13187474hg19UCSC Ensembl
Innerchr1:13178772..13187474hg19UCSC Ensembl
Outerchr1:13178665..13187716hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg388702
hg198703
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9859533, essv9859516, essv9859506, essv9859528, essv9859535, essv9859529, essv9859523, essv9859514, essv9859532, essv9859526, essv9859507, essv9859527, essv9859522, essv9859538, essv9859536, essv9859509, essv9859531, essv9859543, essv9859521, essv9859534, essv9859537, essv9859520, essv9859511, essv9859508, essv9859525, essv9859517, essv9859524, essv9859545, essv9859544, essv9859515, essv9859512, essv9859513, essv9859518, essv9859510, essv9859530, essv9859542, essv9859519, essv9859540, essv9859541, essv9859539
SamplesHG03514, HG01986, NA19700, NA19204, HG03247, HG02318, HG02419, NA18877, NA19446, NA18489, HG02325, HG03663, HG03040, HG03460, NA12815, NA19026, HG00118, NA19189, HG03073, HG03114, HG02882, NA19347, HG02728, NA18910, HG03756, HG03081, HG01808, HG03078, NA19225, HG02332, HG03567, NA19108, NA19037, NA19835, HG02771, HG00478, HG00421, NA19093, HG03077, NA19214
Known GenesHNRNPCP5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585255
Frequency
Sample Size2504
Observed Gain0
Observed Loss40
Observed Complex0
Frequencyn/a


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