A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585952



Internal ID6973471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:47157729..47159921hg38UCSC Ensembl
Innerchr1:47157729..47159921hg38UCSC Ensembl
Outerchr1:47157169..47160205hg38UCSC Ensembl
chr1:47623401..47625593hg19UCSC Ensembl
Innerchr1:47623401..47625593hg19UCSC Ensembl
Outerchr1:47622841..47625877hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg382193
hg192193
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9926544, essv9926587, essv9926562, essv9926574, essv9926595, essv9926551, essv9926588, essv9926591, essv9926581, essv9926569, essv9926576, essv9926539, essv9926578, essv9926560, essv9926593, essv9926540, essv9926592, essv9926558, essv9926561, essv9926585, essv9926571, essv9926546, essv9926549, essv9926547, essv9926555, essv9926564, essv9926538, essv9926556, essv9926594, essv9926552, essv9926536, essv9926584, essv9926590, essv9926586, essv9926559, essv9926572, essv9926575, essv9926542, essv9926567, essv9926557, essv9926548, essv9926550, essv9926543, essv9926577, essv9926537, essv9926570, essv9926553, essv9926545, essv9926580, essv9926541, essv9926566, essv9926579, essv9926583, essv9926565, essv9926554, essv9926568, essv9926582, essv9926563, essv9926589, essv9926573
SamplesHG00189, NA19055, HG00361, HG01855, NA18565, HG02122, NA18979, HG00457, NA18639, HG02382, NA18625, NA18602, NA19076, HG03722, NA18995, HG00674, HG00599, NA18982, HG02130, HG00451, HG00590, HG04183, HG00379, HG02187, HG02082, NA18986, HG00406, NA18539, HG00464, NA19007, NA19070, NA18525, HG02397, HG02076, NA18579, HG01796, HG00708, NA19064, NA18757, HG02121, HG02141, HG04159, HG03755, HG03898, NA18541, NA18646, HG00407, HG00383, NA18535, HG02064, HG02133, NA19078, HG00614, HG00421, HG00342, HG03022, HG00280, HG03955, NA19074, NA18562
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585952
Frequency
Sample Size2504
Observed Gain0
Observed Loss60
Observed Complex0
Frequencyn/a


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