A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3615375



Internal ID7002264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:146556747..146557723hg38UCSC Ensembl
Innerchr7:146556747..146557723hg38UCSC Ensembl
Outerchr7:146556467..146557966hg38UCSC Ensembl
chr7:146253839..146254815hg19UCSC Ensembl
Innerchr7:146253839..146254815hg19UCSC Ensembl
Outerchr7:146253559..146255058hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38977
hg19977
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12997749, essv12997747, essv12997751, essv12997752, essv12997753, essv12997746, essv12997754, essv12997744, essv12997743, essv12997748, essv12997742, essv12997750, essv12997755, essv12997741, essv12997745
SamplesNA19701, HG03111, NA18881, NA18878, HG03172, NA19319, HG03168, HG02922, NA19917, HG03814, HG02450, NA19375, HG03539, HG03112, HG02679
Known GenesCNTNAP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3615375
Frequency
Sample Size2504
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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