A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669954



Internal ID9936059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:127831517..127832088hg38UCSC Ensembl
chr4:128752672..128753243hg19UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg38572
hg19572
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6085683, essv6361425, essv5438178, essv5937306, essv5625786, essv6463937, essv6163658, essv5804561, essv5850278, essv6472929, essv6360450, essv6387672, essv6261695, essv6489409, essv5469476, essv6346328, essv5689166, essv5670736, essv6377097, essv5829816, essv5511470, essv6303452, essv5468227, essv6321440, essv5845952, essv6059590
SamplesHG00542, NA18603, NA18550, HG00702, HG00610, NA18617, HG00464, HG00653, HG00657, HG00533, HG00583, HG00708, HG00404, HG00479, HG00613, HG00704, HG00611, NA18632, NA18615, NA18610, HG00421, NA18636, NA18983, NA18989, HG00437, HG00593
Known GenesHSPA4L
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669954
Frequency
Sample Size1151
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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