A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3614677



Internal ID7001570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:115690586..115693777hg38UCSC Ensembl
Innerchr7:115690586..115693777hg38UCSC Ensembl
Outerchr7:115690157..115694031hg38UCSC Ensembl
chr7:115330640..115333831hg19UCSC Ensembl
Innerchr7:115330640..115333831hg19UCSC Ensembl
Outerchr7:115330211..115334085hg19UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg383192
hg193192
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12933534, essv12933543, essv12933530, essv12933568, essv12933566, essv12933520, essv12933522, essv12933573, essv12933532, essv12933575, essv12933554, essv12933580, essv12933551, essv12933572, essv12933557, essv12933555, essv12933542, essv12933528, essv12933556, essv12933581, essv12933535, essv12933577, essv12933541, essv12933539, essv12933533, essv12933524, essv12933521, essv12933553, essv12933540, essv12933570, essv12933545, essv12933574, essv12933548, essv12933518, essv12933558, essv12933578, essv12933547, essv12933567, essv12933565, essv12933560, essv12933523, essv12933549, essv12933526, essv12933583, essv12933576, essv12933582, essv12933519, essv12933527, essv12933531, essv12933538, essv12933529, essv12933537, essv12933579, essv12933562, essv12933563, essv12933544, essv12933525, essv12933561, essv12933559, essv12933564, essv12933569, essv12933571, essv12933546, essv12933550, essv12933552, essv12933536
SamplesHG02610, HG03548, HG02702, HG03175, HG02433, NA18881, HG03241, HG02852, HG02323, NA20356, HG02895, HG01694, NA19171, HG02621, HG02485, HG02541, HG02840, HG02620, HG02854, HG02489, HG02461, HG03045, HG02885, HG02588, HG02571, HG02502, NA20342, NA19445, HG02477, HG02678, HG02449, HG02554, NA18915, HG03428, HG03159, HG02555, HG01047, HG03085, NA20299, HG03202, HG03397, HG03388, NA18912, HG02635, HG02594, HG02568, HG02722, HG02813, HG02807, HG02667, HG03240, NA19834, HG03458, HG02837, HG03259, HG02982, HG01494, HG02839, HG02464, HG03258, HG02676, NA19116, HG03538, HG02861, HG02855, HG02760
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3614677
Frequency
Sample Size2504
Observed Gain0
Observed Loss66
Observed Complex0
Frequencyn/a


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